In KS, a mutation in the FERMT1 gene results in loss of function, leading to keratinocyte detachment, duplication of the lamina densa, and multiple cleavage planes at different levels of the dermoepidermal junction, beginning at birth.5,7 From the first years of life all 4 patients presented skin fragility that subsequently diminished, leaving patients with cutaneous atrophy and poikiloderma predominantly in photo-exposed areas
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Gold LH, Balster RL (1992)
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